Variant #0000329722 (NC_000003.11:g.183681357T>C, ABCC5(NM_005688.2):c.2051A>G)

Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.183681357T>C
DNA change (hg38) g.183963569T>C
Published as ABCC5(NM_005688.2):c.2051A>G (p.(Asn684Ser))
ISCN -
DB-ID ABCC5_000003
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 7.0E-5 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCC5 NM_005688.2 ?/. - c.2051A>G r.(?) p.(Asn684Ser)